Section 3 Flashcards
0
Q
Down syndrome
A
Slide
1
Q
MELAS
A
Slide
2
Q
Turner syndrome
A
- Occurs in females, when the chromosome number is altered resulting from a loss of all or part of the sex chromosomes X
- basically manifestations include short stature and gonadal failure (sterility)
- life span is decreased secondary to cardiovascular problems, including atherosclerosis
3
Q
Klinefelter syndrome
A
- occurs in males and is a counterpart to Turner syndrome
- The child has 2 X chromosomes and 1Y chromosome
- The children are male
- infertile
- scant pubic hair
- atrophic testes
- small penis
- female features
- lack of facial hair
- feminine hip shape
- breast development
4
Q
Fragile X syndrome
A
- Sex linked genetic disorder
- characteristics include;
- distinctive facial features
- connective tissue problems
- macroorchidism (enlarged testes)
- cognitive and behavioral problems are major
5
Q
Huntington disease
A
Slide
6
Q
Stroke
A
Slide
7
Q
Neural tube defects
A
- these are serious developmental disorders resulting from incomplete closure of the neural tube during embryonic life
- The degree of closure distinguishes the different types
- narrow tube closure occurs between 24 and 28 days beginning at the head and moving downward
8
Q
Anencephaly
A
- disclosure defect is in the skull with all or part of the skull and portions of the brain absent
- this condition is not compatible with life
- can be detected indirectly from a maternal blood sample: maternal serum alpha fetoprotein (MSAFP)
- can also be detected via amniocentesis
- anatomic anomalies may be detected by ultrasound
-
9
Q
Spina bifida
A
- closure defect in the spine
- spina bifida occulta
- meningocele
- myelomeningocele
10
Q
spina bifida occulta
A
Incomplete closure of the vertebrae without protrusion of meninges or spinal cord
11
Q
meningocele
A
Incomplete closure with protrusion of meninges and CSF
12
Q
myelomeningocele
A
Incomplete closure protrusion of meninges, spinal cord fluid, and spinal cord/nerve roots
